Parental origin of chromosome 5 deletions in the cri-du-chat syndrome.
Publication/Presentation Date
9-1-1990
Abstract
The parental origin of de novo deletions leading to the cri-du-chat syndrome has been investigated. Since the cri-du-chat syndrome is correlated with deletions involving the short arm of chromosome 5 (5p), DNA fragments known to detect restriction fragment length polymorphisms (RFLPs) along 5p were used to establish whether the paternal or the maternal chromosome had suffered the deletion. In cases where only one parent was available, somatic cell hybrids were used in conjunction with RFLP analysis to determine the origin of the deleted chromosome. The deleted chromosome 5 was of paternal origin in 20/25 cases.
Volume
37
Issue
1
First Page
83
Last Page
86
ISSN
0148-7299
Published In/Presented At
Overhauser, J., McMahon, J., Oberlender, S., Carlin, M. E., Niebuhr, E., Wasmuth, J. J., & Lee-Chen, J. (1990). Parental origin of chromosome 5 deletions in the cri-du-chat syndrome. American journal of medical genetics, 37(1), 83–86. https://doi.org/10.1002/ajmg.1320370119
Disciplines
Medicine and Health Sciences
PubMedID
1978567
Department(s)
Department of Medicine
Document Type
Article